Y83* (p.Tyr83Ter) variant of WAS (P42768)
Y83* (p.Tyr83Ter) in WAS (P42768) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THC1. The record also includes structural context.
Y83* (p.Tyr83Ter) variant details
- p.Tyr83Ter
- rs368151220
- ClinGen CA16621417
- ClinVar RCV000480615
- ESP rs368151220
- Pathogenic
- in THC1
- Stop Gained
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available